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11.02.2018 | Original Article

Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

verfasst von: Tasneem Obeid, Abdul Rezzak Hamzeh, Fatima Saif, Pratibha Nair, Madiha Mohamed, Mahmoud Taleb Al-Ali, Fatma Bastaki

Erschienen in: Metabolic Brain Disease | Ausgabe 3/2018

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Abstract

The UNC80 gene encodes for a large component of the NALCN sodium-leak channel complex that regulates the basal excitability of the nervous system. In this study, we report on a novel homozygous mutation in UNC80 in a Palestinian-Emirati patient suffering infantile hypotonia with psychomotor retardation and characteristic facies. This mutation was detected by whole exome sequencing and confirmed using Sanger sequencing in the patient-parents trio. Numerous elements in the patient’s phenotype were in agreement with the few reported cases of UNC80 mutations; however there are some notable differences. We present comprehensive clinical and molecular accounts of this mutation in addition to a full review of previously reported patients of UNC80 mutations.

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Titel: Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)
verfasst von: Tasneem Obeid
Abdul Rezzak Hamzeh
Fatima Saif
Pratibha Nair
Madiha Mohamed
Mahmoud Taleb Al-Ali
Fatma Bastaki
Publikationsdatum: 11.02.2018
Verlag: Springer US
Erschienen in: Metabolic Brain Disease / Ausgabe 3/2018
Print ISSN: 0885-7490
Elektronische ISSN: 1573-7365
DOI: https://doi.org/10.1007/s11011-018-0200-z

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Identification of a novel homozygous UNC80 variant in a child with infantile hypotonia with psychomotor retardation and characteristic facies-2 (IHPRF2)

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